Mutagenetix > Incidental Mutation

Incidental Mutation 'R6683:Or1e1d-ps1'

527586

Institutional Source

Beutler Lab

Gene Symbol

Or1e1d-ps1

Ensembl Gene

ENSMUSG00000086011

Gene Name

olfactory receptor family 1 subfamily E member 1D, pseudogene 1

Synonyms

GA_x6K02T2P1NL-4083149-4084087, MOR135-19, Olfr396-ps1

MMRRC Submission

044802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R6683 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

73818833-73819768 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73818939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 36 (Y36C)

Ref Sequence

ENSEMBL: ENSMUSP00000146203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143750] [ENSMUST00000205791]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000143750
AA Change: Y36C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000205791

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,321,604 (GRCm39)	E169G	possibly damaging	Het
Acat2	G	A	17: 13,162,814 (GRCm39)	R377C	probably benign	Het
Adgrg6	A	G	10: 14,331,911 (GRCm39)	V398A	probably damaging	Het
BC025920	A	G	10: 81,445,135 (GRCm39)	H86R	probably damaging	Het
BC028528	T	C	3: 95,795,539 (GRCm39)	T88A	probably damaging	Het
Creb3l4	T	A	3: 90,145,112 (GRCm39)	T347S	probably benign	Het
Dhcr7	T	C	7: 143,397,048 (GRCm39)	V180A	probably damaging	Het
Fam187a	T	C	11: 102,777,015 (GRCm39)	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,550,101 (GRCm39)	R78W	possibly damaging	Het
Krt8	T	C	15: 101,906,439 (GRCm39)	T357A	probably benign	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,339,354 (GRCm39)		probably benign	Het
Ly6d	A	T	15: 74,634,299 (GRCm39)	V97D	probably benign	Het
Map3k13	T	C	16: 21,711,062 (GRCm39)	I115T	probably benign	Het
Muc2	G	A	7: 141,305,214 (GRCm39)	V173I	probably benign	Het
Nck2	T	C	1: 43,608,338 (GRCm39)	S327P	probably benign	Het
Ncoa7	T	C	10: 30,647,717 (GRCm39)	R20G	probably damaging	Het
Nlrp4f	G	A	13: 65,347,009 (GRCm39)	T83I	probably benign	Het
Nploc4	A	G	11: 120,274,156 (GRCm39)	S546P	probably damaging	Het
Or51g2	C	T	7: 102,622,920 (GRCm39)	R93Q	probably benign	Het
Or52e8	C	T	7: 104,625,175 (GRCm39)	V10I	probably benign	Het
Or5b21	A	G	19: 12,840,014 (GRCm39)	S292G	probably damaging	Het
Panx1	T	C	9: 14,919,307 (GRCm39)	E184G	probably benign	Het
Parp14	T	C	16: 35,655,047 (GRCm39)	Y1808C	probably damaging	Het
Plcb1	A	T	2: 134,628,513 (GRCm39)	S21C	probably benign	Het
Ppil6	A	G	10: 41,374,427 (GRCm39)	N103D	probably benign	Het
Pth1r	C	T	9: 110,556,319 (GRCm39)		probably null	Het
Rapgef4	A	T	2: 71,885,123 (GRCm39)		probably benign	Het
Rlf	A	G	4: 121,005,123 (GRCm39)	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,410,822 (GRCm39)	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,085,896 (GRCm39)	M117T	probably benign	Het
St8sia4	T	C	1: 95,581,424 (GRCm39)	D106G	probably damaging	Het
Tjp2	A	G	19: 24,098,207 (GRCm39)	I485T	probably damaging	Het
Trdc	T	C	14: 54,381,692 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,541,004 (GRCm39)	L33994P	probably damaging	Het
Vmn2r42	T	A	7: 8,187,224 (GRCm39)	K799N	probably damaging	Het
Zfp42	G	A	8: 43,749,093 (GRCm39)	T136M	possibly damaging	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	probably benign	Het

Other mutations in Or1e1d-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6088:Or1e1d-ps1	UTSW	11	73,819,649 (GRCm39)	missense	probably benign	0.12
R6874:Or1e1d-ps1	UTSW	11	73,819,068 (GRCm39)	missense	probably null	0.90
R7024:Or1e1d-ps1	UTSW	11	73,819,332 (GRCm39)	nonsense	probably null
R7336:Or1e1d-ps1	UTSW	11	73,819,663 (GRCm39)	missense	probably benign
R7380:Or1e1d-ps1	UTSW	11	73,819,013 (GRCm39)	missense	possibly damaging	0.93
R9127:Or1e1d-ps1	UTSW	11	73,819,167 (GRCm39)	missense	probably damaging	0.96
R9447:Or1e1d-ps1	UTSW	11	73,819,617 (GRCm39)	missense	probably benign	0.01
R9612:Or1e1d-ps1	UTSW	11	73,819,375 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- AAGCACTTGTCTTCCATACATGTTC -3'
(R):5'- AAGGAAGTACATTTGTGTCAGGCAG -3'

Sequencing Primer
(F):5'- CAGACTACCATCTCTCAGTTC -3'
(R):5'- CAGCCTGCATAGGGGATTG -3'

Posted On

2018-07-23